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rs281875322

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281875322(A;G)
Make rs281875322(G;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position51078306
GeneSMAD4
is asnp
is mentioned by
dbSNPrs281875322
ebirs281875322
HLIrs281875322
Exacrs281875322
Varsomers281875322
Maprs281875322
PheGenIrs281875322
hapmaprs281875322
1000 genomesrs281875322
hgdprs281875322
ensemblrs281875322
gopubmedrs281875322
geneviewrs281875322
scholarrs281875322
googlers281875322
pharmgkbrs281875322
gwascentralrs281875322
openSNPrs281875322
23andMers281875322
23andMe allrs281875322
SNP Nexus

SNPshotrs281875322
SNPdbers281875322
MSV3drs281875322
GWAS Ctlgrs281875322
Max Magnitude0
ClinVar
Risk rs281875322(G;G)
Alt rs281875322(G;G)
Reference rs281875322(A;A)
Significance Pathogenic
Disease Myhre syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene SMAD4
CLNDBN Myhre syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000018.9:g.48604676A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023061.5, RCV000059733.1, RCV000160957.1,


[PMID 22158539] Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.


[PMID 22243968OA-icon.png] A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.